Varaico: Literature-Extracted Genetic Variants

Gene:FGG
Variant:p.T47I
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FGG

NM_021870.3:p.T47I

Associated Papers

The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.

Stefanucci L et al.

Blood, 2023

37647632 (PubMed )
Supplement: BLOOD_BLD-2023-020118-mmc3.xlsx › ST3.4

A GP1BA Variant in a Czech Family with Monoallelic Bernard-Soulier Syndrome.

Skalníková M et al.

International Journal of Molecular Sciences, 2022

35055070 (PubMed )
Supplement: ijms-23-00885-s001.zip › ijms-1511540-supplementary.pdf

Fibrinogen as a Pleiotropic Protein Causing Human Diseases: The Mutational Burden of Aα, Bβ, and γ Chains.

Paraboschi EM et al.

International Journal of Molecular Sciences, 2017

Molecular dynamics-based analyses of the structural instability and secondary structure of the fibrinogen gamma chain protein with the D356V mutation.

Ali SK et al.

Journal of Biomolecular Structure & Dynamics, 2017

Abnormal fibrinogen Zlín (γThr21Ile) with missense mutation causing hypofibrinogenemia.

Riedelová-Reicheltová Z et al.

Acta Haematologica, 2014

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."